MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Peeling skin syndrome type A

ORPHA:263548Клин. под.
Autosomal recessive

Peeling skin syndrome type B

ORPHA:263553Клин. под.
Autosomal recessive

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

ORPHA:444138Ауру
Autosomal recessive

Pelizaeus-Merzbacher disease

ORPHA:702Ауру
X-linked dominant, X-linked recessive

Pelizaeus-Merzbacher disease in female carriers

ORPHA:280229Клин. под.
X-linked recessive

Pelizaeus-Merzbacher disease, classic form

ORPHA:280219Клин. под.
X-linked recessive

Pelizaeus-Merzbacher disease, connatal form

ORPHA:280210Клин. под.
X-linked recessive

Pelizaeus-Merzbacher disease, transitional form

ORPHA:280224Клин. под.
X-linked recessive

Pelizaeus-Merzbacher-like disease

ORPHA:280270Ауру
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

ORPHA:280293Клин. под.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

ORPHA:280282Клин. под.
Autosomal recessive

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

ORPHA:280288Клин. под.
Autosomal recessive

Pelvic arteriovenous malformation

ORPHA:714715Морф.
Not applicable

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

ORPHA:2840Мальф.

Pelvis-shoulder dysplasia

ORPHA:2839Мальф.
Autosomal dominant

Pelviscapular dysplasia

ORPHA:93333Мальф.
Autosomal recessive

Pemphigoid gestationis

ORPHA:63275Ауру

Pemphigus erythematosus

ORPHA:79480Ауру

Pemphigus foliaceus

ORPHA:79481Ауру

Pemphigus vegetans

ORPHA:79479Ауру

Pemphigus vulgaris

ORPHA:704Ауру
Not applicable

Pendred syndrome

ORPHA:705Мальф.
Autosomal recessive

Penile agenesis

ORPHA:49Морф.

Penoscrotal transposition

ORPHA:2842Морф.
Autosomal recessive, Not applicable, X-linked recessive